ClinVar for Gene (Select 29925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100520	NM_021971.4(GMPPB):c.878G>C (p.Arg293Pro)	GMPPB (R293P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061179	NM_021971.4(GMPPB):c.1057G>A (p.Val353Met)	GMPPB (V353M +1 more)	Single nucleotide variant (missense variant)	GMPPB-related disorder	GUncertain significance
Select item 3051285	NM_021971.4(GMPPB):c.-94C>T	GMPPB	Single nucleotide variant (5 prime UTR variant)	GMPPB-related disorder	GLikely benign
Select item 3036744	NM_021971.4(GMPPB):c.729G>C (p.Arg243=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder	GLikely benign
Select item 3033721	NM_021971.4(GMPPB):c.933C>T (p.Arg311=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder	GLikely benign
Select item 3027176	NM_021971.4(GMPPB):c.207G>A (p.Gln69=)	GMPPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2953265	NM_021971.4(GMPPB):c.618dup (p.Leu207fs)	GMPPB (L207fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GPathogenic
Select item 2952767	NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)	GMPPB (I376T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2943156	NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)	GMPPB, LOC129936764 (R74P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2938036	NM_021971.4(GMPPB):c.260-13C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2937875	NM_021971.4(GMPPB):c.654C>T (p.Asp218=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2936436	NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)	GMPPB (G45fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GPathogenic
Select item 2936227	NM_021971.4(GMPPB):c.288A>G (p.Leu96=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2933920	NM_021971.4(GMPPB):c.612G>A (p.Glu204=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2933314	NM_021971.4(GMPPB):c.211-13CT[3]	GMPPB, LOC129936764	Microsatellite (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2932266	NM_021971.4(GMPPB):c.21G>T (p.Val7=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2931587	NM_021971.4(GMPPB):c.561+18G>A	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2930007	NM_021971.4(GMPPB):c.150C>T (p.Ile50=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2929842	NM_021971.4(GMPPB):c.927C>A (p.Gly309=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2929720	NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)	GMPPB (E196Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 2928720	NM_021971.4(GMPPB):c.972A>G (p.Thr324=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2924826	NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2923477	NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)	GMPPB (E281K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2922847	NM_021971.4(GMPPB):c.291C>T (p.Leu97=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2922019	NM_021971.4(GMPPB):c.211-20G>A	GMPPB, LOC129936764	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2653847	NM_021971.4(GMPPB):c.288A>T (p.Leu96=)	GMPPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653846	NM_021971.4(GMPPB):c.952-25T>C	GMPPB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621081	NM_022064.5(RNF123):c.3704C>T (p.Thr1235Ile)	GMPPB, RNF123 (T1235I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2584806	NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)	GMPPB (E99D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T	GUncertain significance
Select item 2540710	NM_022064.5(RNF123):c.3626G>A (p.Arg1209His)	GMPPB, RNF123 (R1209H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2500893	NM_021971.4(GMPPB):c.291_294del (p.Ser98fs)	GMPPB (S98fs)	Microsatellite (frameshift variant)	Myopathy caused by variation in GMPPB	GLikely pathogenic
Select item 2498932	NM_021971.4(GMPPB):c.803T>C (p.Ile268Thr)	GMPPB (I268T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2491119	NM_021971.4(GMPPB):c.989T>C (p.Val330Ala)	GMPPB (V357A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444180	NM_021971.4(GMPPB):c.130-2A>C	GMPPB	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T	GLikely pathogenic
Select item 2432196	NM_021971.4(GMPPB):c.554G>T (p.Arg185Leu)	GMPPB (R185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432195	NM_021971.4(GMPPB):c.686T>C (p.Met229Thr)	GMPPB (M229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432194	NM_021971.4(GMPPB):c.951+26G>A	GMPPB (G326E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432193	NM_021971.4(GMPPB):c.418G>C (p.Glu140Gln)	GMPPB (E140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432192	NM_021971.4(GMPPB):c.952-22C>G	GMPPB (D337E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432190	NM_021971.4(GMPPB):c.366G>T (p.Gln122His)	GMPPB (Q122H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432189	NM_021971.4(GMPPB):c.23G>A (p.Gly8Glu)	GMPPB (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432188	NM_021971.4(GMPPB):c.481_483del (p.Glu161del)	GMPPB (E161del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2432187	NM_021971.4(GMPPB):c.461G>A (p.Gly154Asp)	GMPPB (G154D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432186	NM_021971.4(GMPPB):c.516C>G (p.Asn172Lys)	GMPPB (N172K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432185	NM_021971.4(GMPPB):c.187G>A (p.Glu63Lys)	GMPPB (E63K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432184	NM_021971.4(GMPPB):c.952-18_952-17delinsTT	GMPPB (A339F)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2432182	NM_021971.4(GMPPB):c.952-12C>T	GMPPB (P341S)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GConflicting classifications of pathogenicity
Select item 2432181	NM_021971.4(GMPPB):c.791A>G (p.Gln264Arg)	GMPPB (Q264R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432180	NM_021971.4(GMPPB):c.784A>G (p.Ile262Val)	GMPPB (I262V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432179	NM_021971.4(GMPPB):c.952-38G>C	GMPPB (C332S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432178	NM_021971.4(GMPPB):c.280C>G (p.Arg94Gly)	GMPPB (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431558	NM_021971.4(GMPPB):c.952-21_952-17dup	GMPPB (Y340fs)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	GUncertain significance
Select item 2410066	NM_021971.4(GMPPB):c.952-22C>A	GMPPB (D337E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409763	NM_022064.5(RNF123):c.3742A>G (p.Thr1248Ala)	GMPPB, RNF123 (T1248A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2400227	NM_021971.4(GMPPB):c.308C>A (p.Pro103His)	GMPPB (P103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396480	NM_022064.5(RNF123):c.3550C>T (p.Arg1184Cys)	GMPPB, RNF123 (R1184C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372041	NM_022064.5(RNF123):c.3679G>C (p.Val1227Leu)	GMPPB, RNF123 (V1227L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371276	NM_022064.5(RNF123):c.3699C>A (p.His1233Gln)	GMPPB, RNF123 (H1233Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2335280	NM_021971.4(GMPPB):c.951+16G>A	GMPPB (G323R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317018	NM_022064.5(RNF123):c.3695C>G (p.Ala1232Gly)	GMPPB, RNF123 (A1232G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2314769	NM_021971.4(GMPPB):c.1058T>C (p.Val353Ala)	GMPPB (V380A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237627	NM_021971.4(GMPPB):c.29A>G (p.Tyr10Cys)	GMPPB (Y10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228645	NM_021971.4(GMPPB):c.951+28G>A	GMPPB (E327K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203395	NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)	GMPPB (C113Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2200990	NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)	GMPPB (E61D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 2200226	NM_021971.4(GMPPB):c.699G>A (p.Leu233=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2199452	NM_021971.4(GMPPB):c.561+13C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2197144	NM_021971.4(GMPPB):c.768+13C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2174419	NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)	GMPPB (G205E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2171940	NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)	GMPPB (D114Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2167048	NM_021971.4(GMPPB):c.840C>T (p.Val280=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2155659	NM_021971.4(GMPPB):c.402+16T>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2151975	NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)	GMPPB (C285fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2150147	NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2149997	NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)	GMPPB (M64R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2142474	NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)	GMPPB, LOC129936764 (E82K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2136135	NM_021971.4(GMPPB):c.550C>T (p.Gln184Ter)	GMPPB (Q184*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2125713	NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)	GMPPB (W317*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2124435	NM_021971.4(GMPPB):c.640+15C>T	GMPPB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2118188	NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)	GMPPB (K195R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2112171	NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)	GMPPB (F104L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2110706	NM_021971.4(GMPPB):c.641-11C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2106071	NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)	GMPPB (G269C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2104833	NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)	GMPPB (K23R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2099219	NM_021971.4(GMPPB):c.714G>T (p.Gln238His)	GMPPB (Q238H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +3 more	GUncertain significance
Select item 2092307	NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)	GMPPB (H36Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2090803	NM_021971.4(GMPPB):c.259+19G>A	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2088256	NM_021971.4(GMPPB):c.260-7C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2077534	NM_021971.4(GMPPB):c.952-17C>T	GMPPB (A339V)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2070938	NM_021971.4(GMPPB):c.972dup (p.Val325fs)	GMPPB (V325fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2064081	NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)	GMPPB (S168Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2061544	NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2059385	NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)	GMPPB (N169S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2052918	NM_021971.4(GMPPB):c.615G>A (p.Gly205=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder +3 more	GLikely benign
Select item 2052273	NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)	GMPPB (M175T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2046969	NM_021971.4(GMPPB):c.129+3A>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2044436	NM_021971.4(GMPPB):c.36G>A (p.Thr12=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2041001	NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)	GMPPB (R158W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2038026	NM_021971.4(GMPPB):c.264G>A (p.Gly88=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2034950	NM_021971.4(GMPPB):c.641-14A>C	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign

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